Overview

Variant ID 2822
Entrez Gene ID 100852410
Gene ZRANB2-AS2 (GeneCards)
Location hg19 1:71777242-71777242
hg38 1:71311559-71311559
Disease Xeroderma Pigmentosum (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000001.10:g.71777242 G>C (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 249250621

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.3053
CADD Raw score (version 1.3) 0.619845 (Deleterious)
FATHMM raw prediction score 0.97455 (Tolerated)
Deleterious probability by DeFine 0.9615 (Deleterious)
Entrez Gene ID 100852410 (NCBI Gene)
Official Gene Symbol ZRANB2-AS2 (GeneCards)
Number of variants in ZRANB2-AS2 in this database 5 (view all the variants)
Full name ZRANB2 antisense RNA 2 (head to head)
Band 1p31.1
Other IDs HGNC: HGNC:43595
Ensembl: ENSG00000229956
Other names None
Summary None

Individual #1

Individual ID 29217584.23 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Xeroderma Pigmentosum (view all the variants in this disease)
OMIM ID 278700

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;